Varaico: Literature-Extracted Genetic Variants

APC

6,282 papers

RefSeq Summary

This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional acti...

Pfam Domains

APC_N_CCaa 4–55UCSCCoiled-coil N-terminus of APC, dimerisation domain

Suppressor_APCaa 131–207UCSCAdenomatous polyposis coli tumour suppressor protein

APC_repaa 393–466UCSCAdenomatous polyposis coli (APC) repeat

Armaa 512–553UCSCArmadillo/beta-catenin-like repeat

Armaa 649–689UCSCArmadillo/beta-catenin-like repeat

Armaa 691–731UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

APC regulator of Wnt signaling pathway

HGNC Alias Symbols

DP2; DP3; DP2.5; PPP1R46

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000038.6

p.I2573N

c.7718T>A

Surrounding Variants

4 papers

NM_000038.6

p.I2573V

c.7717A>G

2 papers

NM_000038.6

p.I2573delFs

c.7719delT

4 papers

NM_000038.6

p.L2574I

c.7720C>A

1 paper

NM_000038.6

p.L2574V

c.7720C>G

3 papers

NM_000038.6

p.L2574F

c.7720C>T

1 paper

NM_000038.6

p.S2572*

c.7715C>A

1 paper

NM_000038.6

p.S2572*

c.7715C>G

1 paper

NM_000038.6

p.S2575P

c.7723T>C

6 papers

NM_000038.6

p.S2570*

c.7709C>A

5 papers

NM_000038.6

p.S2570*

c.7709C>G

3 papers

NM_000038.6

p.A2576V

c.7727C>T

2 papers

NM_000038.6

p.S2570L

c.7709C>T